Variant #0000359641 (NC_000001.10:g.[97997390_98113120inv;97997386_97997389del], DPYD(NM_000110.3):c.[850+31531_1525-15893inv;1525-15892_1525-15889del])

Individual ID 00155716
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.[97997390_98113120inv;97997386_97997389del]
DNA change (hg38) -
Published as g.[98113121_97997390inv;97997386_97997389del]
ISCN -
DB-ID DPYD_000030 See all 2 reported entries
Variant remarks -
Reference PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Maja Tarailo-Graovac
Database submission license No license selected
Created by Maja Tarailo-Graovac




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 +/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156601 DNA;RNA RT-PCR;SEQ;SEQ-NG-I - - DPYD 1 Maja Tarailo-Graovac